CONFERENCES

OIF CONFERENCE ONLINE

In place of the in-person OIF National Conference this year, the Osteogenesis Imperfecta Foundation in the USA will host a Virtual Conference on July 10-12, 2020. The Virtual OIF Conference will provide live online versions of some of the most popular informational and social sessions at the biennial OIF National Conference. People from all countries who are interested can attend – this includes both people with OI, their families and professionals. You don’t have to be a member of the OIF.

Topics include:

  • Genetics
  • Mild OI
  • Management of pain & fatigue
  • Women’s Health
  • OI Surgery – children and adults
  • Dental issues

OIF Virtual Conference is free of charge, but you must register for each session you would like to attend. More information and link to register can be found here.

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ADVOCACY

OIFE AT PATIENT ENGAGEMENT FORUM

This week representatives from OIFE attended two different online sessions connected to the Patient Engagement Open Forum, which is a series of virtual educational sessions on patient engagement. The Forum is hosted by PARADIGM, PFMD and EUPATI aims to provide a holistic perspective of patient engagement, the landscape and actors, and foster collaboration and co-creation while breaking down fragmentation and silos that are often present in patient engagement work.

Anyone can join

There will be six other sessions from July to November in 2020 and anyone who’s interested in patient engagement can attend.

Topics range from tools and recommendations for effective patient engagement, methods for monitoring and evaluation of impact and outcomes in patient engagement activities, and fair market compensation for patient input to interactive sessions on assessing good practices in patient engagement and more. This includes both patient representatives, professionals and industry representatives.

Session on patient experience in regulatory processes

OIFE president Ingunn attended the opening session on June 25th including the parallel session on patient experience data in regulatory processes where the objectives were:

  • Learn more about ongoing patient engagement efforts to inform regulatory decision making
  • Explore challenges and emerging good practices around the use of patient experience data in regulatory submissions
  • Prioritize Patient Experience Data (PED) challenges and emerging good practices in regulatory communication
  • Understand what areas can help move the needle internally for organizations and externally in collaboration with patient organizations, biopharma and regulators

Session on fair market value

On June 26th two representatives from OIFE attended the parallel session hosted by the National Health Council in the USA called “Patient engagement fair-market value calculator toolbox”. The toolbox provides different tools for patient engagement including a calculator, which can be used to estimate the value of the contributions from patient representatives and patient organizations when working with the industry. One of the tools the National Health Council has created is a toolbox to support sponsor-patient engagement. These tools include a publicly accessible, online fair-market value calculator, patient-friendly contract templates, compensation and contracting principles for engaging with patients, and other tools. The OI Foundation are members of the NHC and Tracy Hart (CEO of OIF) has been part of the development process of the toolbox.

 

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MEDICAL

Women’s health & OI

WOMEN’S HEALTH AT OIF CONFERENCE
Did you know that Women’s health is one of the topics which will be covered at the upcoming online conference of the Osteogenesis Imperfecta Foundation? The speaker is Dr. Deborah Krakow, MD – Professor and Chair, Obstetrics and Gynecology, UCLA.

The session is designed specifically for women over 18 who have OI, but professionals and other people from all countries, can attend. Click here to register.

PREGNANCY & OI
Dr. Krakow will also give a talk called “Management of Pregnancy & Delivery in the Patient with a Skeletal Disorder” at the TeleECHO session on July 2nd 21.00 CET. See more information here: https://oif.org/research/echo/

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EVENTS

OIFE AGM on Zoom – a success

Each year all delegates are invited to the Annual General Meeting (AGM) of OIFE, which is normally the only time a year the whole Board comes together. At the AGM the Executive Committee (EC) accounts for OIFE’s activities in the past year, future plans and policies are discussed and members exchange news and ideas.

Our original plan for OIFE AGM 2020 was to meet in sunny Valencia from May 8th to May 10th. But the Corona virus put a stop to that, as it has done to so many other meetings and conferences. But we would not let it stop us from having our annual meeting. The EC therefore organized a two part meeting on Zoom on May 9th instead. Part one included approval of annual reports, budget and elections. And part two included a webinar on new treatments in OI.

Participants at OIFE AGM part 1 (participants of OIFE AGM part 2 in heading)

People from all continents took part

Anyone from our member organizations can attend the OIFE AGM. In addition, OIFE volunteers, volunteers from other organizations, professionals and other people with an interest in OIFE can be invited.

62 participants attended part one of AGM 2020. 66 people attended the webinar (part 2) on new treatments. What was unique about this year’s event, was the record number of member organizations that were able to attend. We had all the national organizations from Europe except one attending. In addition to European organization and three supporting members, we had representatives from organizations and invited guests from all different continents including Peru, USA, Chile, Ghana, Nigeria, India and Australia. This year we had also invited people from Mereo Biopharma, our Medical Advisory Board as well as contributors from other rare bone communities, including XLH and HPP. Between 70-75 people attended the event in total

Bruno elected as 2nd Vice President

Bruno Van Dijck

AGM part one included approval of annual reports, budget and elections. All proposals from OIFE EC were approved. We welcome Bruno van Dijck to the EC team, as the new 2nd Vice President of OIFE.

In addition to reports and elections, OIFE president and OIFE’s Communication Manager gave an update on current happenings and news and a summary from the national reports. The last part of OIFE AGM part one was dedicated to a presentation of a new collaboration on a planned global survey between OIFE, the OI Foundation and the company Mereo Biopharma.

Survey on the impact of OI

OIFE president presented the project, which is an initiative from Mereo Biopharma which is formally supported by OIFE and the OI Foundation. The plan is to do a global survey on the impact on OI to:

  • understand the patient journey better in X & Y country
  • to understand better what OI means for children and adults beyond fractures
  • what the economic impact of OI is on people with OI and their families (direct and indirect costs)
  • how we can measure quality of life in OI in the best possible way
  • what kind of data we should collect and how

Three representatives from Mereo Biopharma were present to answer questions and comments from the participants. Mereo informed us that a steering committee will be established with members from OIFE, OIF and Mereo Biopharma in addition to 5 medical professionals from US and Europe, including both pediatricians and adult doctors.

Webinar on new treatments in OI 

Part two took place on Zoom from 15.00 to 17.00 and included talks about:
– News on BOOSTB4 (Cecilia Götherström)
– News on setrusumab project (Mereo Biopharma)
– Access to treatments for rare bone diseases (Oliver Gardiner & Paul Connor)
– Registries & patient data (Lena Lande Wekre)
Click here to download the agenda.

 

OIFE AGM on Zoom a success 

The event has received a lot of positive feedback in retrospect and many people were positively surprised how well an event on Zoom could work. 37 people answered the evaluation form and 95% of the participants gave a score of “Very good” or “Excellent”, which means that OIFE AGM 2020 can be considered a success.

 

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EDITORIALS

It’s a small world…

Fear is the path to the dark side, they said in Star Wars. Because fear can be used as a political tool to convince people to do their social distancing. But fear can also be destructive and cause anxiety. Especially for people who are part of the risk group of Covid-19. How tired we are of hearing that the virus is “only” dangerous for the elderly and sick! The artist Chiara Bersani from Italy wrote a blog about what kind of feelings these statements create. Check it out!

Unfortunately for people with rare diseases like OI, these are discussions we will have to endure the coming weeks and months. Because when are restrictions too dramatic? And what are the costs? Nobody knows. We are all moving in new and unknown landscapes, trying to adapt.

OIFE’s Virus Workout every Sunday on Zoom

As the leader of an international organization it was both fascinating and scary to watch the situation develop so differently from country to country. What seemed unthinkable in one country (but not the other) was business as usual five days later. Dramatic changes from day to day. Hour to hour.  “It’s the end of the world as we know it.” said R.E.M. How will the world will look like after this? We just know it will be different…

But there are also indirect positive consequences of the virus. The international OI-community has come together to help each other with advice, information and support. The OI Foundation (OIF) did a Q&A session with dr. Sandhaus and dr. Glorieux. And thanks to Zoom they were able to gather more than 250 participants from all parts of the world. Every Sunday evening, OIFE have invited people to “Virus Workout” on Zoom. Keeping active and doing some cardio is still important even if it has to happen in our own homes. But it’s so much more fun to be active together! And laugh and joke a little as well, which is good for the mental health. Care4BrittleBones have invited people to virtual concerts, which has also contributed to keeping up the spirits.

OIF have also hosted a webinar about OI & mental health. One of the speakers were Kara Ayers – who is the coordinator of the network of people working with psychosocial health and OI. Some of you might have received an email about an “Expertise Finder Survey for psychosocial aspects of OI”. It is issued by Care4BB and their goal is to improve quality of life of people with OI by learning about good practices, finding relevant research and identifying experienced professionals and patient experts interested in psychosocial issues & OI.

In fact, psychosocial issues is the main focus of this magazine, because the topic has been slightly ignored before. Maybe because people with OI have good coping skills? No matter how resilient we are, we all need some support from time to time. Especially in turbulent times like this, with a worldwide pandemic scaring even the toughest of us. My personal advice is to reduce the time spent on news and social media and use your time on something positive like volunteer work, hobbies, OIFE virus workout or virtual happy hour with friends or family.

If there is one thing that people with OI are good at – it’s entertaining ourselves. Many of us have lots of practice from long hospital stays and time at home because of fractures. So we can do this! And with the help of Zoom & Skype – we can even do it together! Because it’s a small world we are living in. For better and for worse. Stay safe everyone!

Kind greetings
Ingunn – OIFE president

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MEDICAL

COVID-19 – info for people with OI

The OIFE will update this page with links to resources about COVID-19 and osteogenesis imperfecta. We have created a shortlink to this page to make it easier to remember. If you type in the following in your browser, you will be redirected to this page oife.org/covid19

Are people with OI in the risk group? 

We have received some questions if people with OI are in the risk group regarding the Corona virus (COVID-19). OI does not affect the immune system as such! However lung connective tissue is altered in all types of OI. The severity of symptoms and the risk for pulmonary problems is increased in people with short stature, abnormal chest shape, kyphoscoliosis, and vertebral or rib fractures.

In some countries they have specifically put osteogenesis imperfecta on the official list of “at-risk patients”. See the “Clinical guide for the management of rheumatology patients during the coronavirus pandemic” as an example from the UK.

See also “A message from the OI Foundation about Coronavirus”.

Resources on pulmonary issues & OI 

Fact sheets from the OI Foundation about:
– Respiratory issues: https://bit.ly/2ItnPx
– Adults with OI & breathing issues: https://bit.ly/2TLc1eB
– Pneumonia vaccine for people with OI (new update from April 2020): https://bit.ly/3aBJmzm

General emergency information for people with OI 

Official sources of information about COVID-19

With the fast-evolving situation surrounding COVID-19 in Europe and across the world, members of the rare disease community may be concerned about their health. Please find below links to official information sources that are updated regularly. We also advise that you refer to information published by your own national health authorities/ ministries.

ERN-BOND COVID-19 Helpline 

ERN BOND – European Reference Network on Rare Bone Diseases has created a 24-hour Help Line for COVID-19. The purpose behind it is to give advice in cases where a person with a rare bone disease (incl. OI) has contracted COVID-19 or there is a strong suspicion that they have it.

The Help Line was created in agreement with the rare disease umbrella in Italy Federazione delle Associazioni di Persone con Malattie Rare d’Italia (UNIAMO FIRM) and with the Asitoi – Associazione Italiana Osteogenesi Imperfetta Onlus.

You can contact the Help Line by calling or sending a whatsapp message to the number: (+39) 331 1728796

For now, the network is primarily for Italy (the country in which the emergency is most acute), but ERN BOND is encouraging similar helplines in other countries.

Webinars on COVID-19 & OI on YouTube

There has been several webinars on COVID-19 & OI in the past weeks and months. We bring you the links to the English language

If you are in doubt with what you should do in the current situation – please contact the health care providers in your country!

 

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OIFE

Seasonal Greetings from OIFE

Dear friends & contacts of OIFE.

It’s Christmas Eve in Switzerland and I’m taking a moment before family dinner to look back on the year that has passed. To be honest it has been 12 months of ups and downs in the OIFE. To start with the saddest part, it has been a challenging and emotional time after the sudden passing of OIFE’s vice president Ida Mannistö from Finland in October. Ida had not been part of the Executive Committee (EC) of OIFE for more than a year, but she was a natural member of the team. We truly appreciate the time we got to work together. We will keep Ida in our thoughts in our future work for OIFE and she will be deeply missed…

Now to the more positive aspects. I think it’s fair to say that 2019 was the year of the many meetings. Winter and spring 2019 was a busy time preparing OIFE’s topical meeting See, Hear, Smile! that took place in Riga, Latvia from June 14-15th 2019. It was four years since our last topical meeting in Oslo, and every time we tend to forget how much work it involves to gather more than 80 participants from 22 countries. But thanks to our fantastic programme committee, the local organizers and our supporters Alexion, Mereo Biopharma, Cast Print and the OI Foundation we succeeded in creating an enjoyable and memorable event where eyes, ears and teeth and craniofacial issues were in focus.

See, Hear, Smile! brought excellent talks, great discussions and good opportunities for networking in a relaxed atmosphere. A big thank you to the lectures who came to Riga and contributed with their knowledge, with little or no compensation. On the following pages you can find material and photos from the event:

International networking at ICCBH

After the topical meeting we held our annual general meeting (AGM), where the Executive Committee of OIFE accounted for OIFE’s activities in the past year. Future plans and policies were discussed and members exhanged news and ideas. Dr. Eva Åstrøm from Sweden gave an update on ERN BOND and the company Mereo Biopharma gave us a status on the Asteroid study and presented opportunities and challenges regarding real world evidence and the need for registries. Click here to see photos from the AGM.

Shortly after Riga, Inger-Margrethe from NFOI and I went on to Salzburg for the ICCBH-conference. This year mostly to network with central professionals and people from the rare bone community. OIFE was also one of the central parties behind the establishment of the European Rare Bone Forum, which has taken a lot of time and energy in 2019.

In August we held our annual meeting of the Executive Committee in Oslo. We tried to do a low cost (or cosy) version through meeting in our private apartment. Since Dace was still breastfeeding, she brought her whole family. And even if it was slightly chaotic at times with computers, task lists, nappies and home made meals – we had a great time together and a fairly productive meeting.

OIFE Youth Event – chaos put into system (or a bus)

In September I had the pleasure to visit the annual family conference of the Brittle Bone Society, where I made new friendships and got a lot of useful information. But this is not the only conference or event where OIFE has been represented this year. Different representatives from OIFE have attended countless meetings in EURORDIS, ERN BOND, the European Medicinces Agency, in various research projects and much more. We’ve also had several meetings with the company Mereo Biopharma, where we have provided advice from the patient organization perspective. I’d like to take the opportunity to thank all the volunteers who represented us in the countless meetings and I send a big thank you to all our contacts and collaborators, for wanting to work with us in such a constructive way.

In October it was time for the highlight of the year – namely OIFE Youth Event. This year it took place in Bilbao, Spain. And as normal it was a success with a lot of tired and euphoric people going home with severe sleep deprivation and new friendships for life.

The last two months of the year had Quality of Life in focus. Many people from the OIFE and OI-community in general attended the Quality of Life 4 OI-conference from November 22nd – 25th in Amsterdam. Personally I had the honor to give one of the opening talks about the changing role of patients and OIFE hosted the deep dive session 5 on patient empowerment together with OIF, BBS and the other organizations.

Many people from OIFE contributed in various ways even if the biggest workload was definitely on Care4BrittleBones. We’d like to send a special thanks to Dagmar and her team for daring to take the leap and host such an inclusive conference that had never been done on such a scale before.

With the after-film from the biggest event in 2019, we wish you all a joyful, relaxing holiday season and a Happy New Year with good quality of life!

Kind greetings from Ingunn – OIFE president

 

 

 

 

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CONFERENCES

Identifying Gaps in OI Research

By Dr. Antonella Forlino, member of OIFE’s Medical Advisory Board

Report from OIF Investigator meeting 2019

It was a great pleasure to be sponsored by OIFE to participate at the 19th Annual OI Foundation (OIF) Scientific Meeting held in Chicago on April 10-12 and co-chaired by Dr Marini and Dr Raggio. The American Scientific Community involved in OI research met to discuss the extremely stimulating topic “Identifying Gaps in OI Research”. Basic, translational and clinical researchers were present. It was a great opportunity to have deep discussions various OI related questions in a friendly and stimulating environment.

Dr. Marini opened the meeting with a brilliant overview on our current understanding of the disease in terms of different OI types, their molecular basis and clinical manifestation.

“The Role of Cellular Metabolism and ER stress”

The first Session on “The Role of Cellular Metabolism and ER stress” moderated by Peter H Byers provided an exciting update on the relevance of cell homeostasis as modulator for OI bone phenotype. The accumulation of mutant collagen type I in many OI types has been demonstrated in several studies and the modulation of its intracellular fate has been pointed out as possible target for novel treatments. To stimulate protein folding using chemical chaperones as well as to enhance protein degradation by favoring autophagy have both been considered valid approaches.

John Bateman presented new data on the effect of autophagy enhancement by rapamycin treatment using the OI murine model Amish carrying a G610C substitution in the α2(I) chain of collagen I. From this study a poor efficacy of autophagy stimulation in ameliorating bone properties emerged, even if positive effect on bone trabecular mass was evident (Bateman JF, et al. J Cell Mol Med. 2019;23(3):1735-1745). Sergey Leikin described a new non-canonical autophagic mechanism for intracellular mutant collagen degradation, identifying a new potential target for therapy (Omari S, et al. Proc Natl Acad Sci U S A. 2018;115(43):E10099-E10108).

Dr Forlino using in vitro and in vivo approaches demonstrated the goodness of the chemical chaperone 4-phenylbutyrate in ameliorating cell homeostasis (Besio R, et. Al. Biochim Biophys Acta Mol Basis Dis. 2018;1864(5 PtA):1642-1652. and Gioia R, et al. Hum Mol Genet. 2017;26(15):2897-2911).

Finally, Dr Phillips illustrated an interesting and novel link between muscle weakness and mitochondrial dysfunction in OI using the oim murine model (Gremminger VL, et al. J Bone Miner Res. 2019).

“OI Type VI and Atypical OI Type VI and the pathway connecting them”

Session 2 “OI Type VI and Atypical OI Type VI and the pathway connecting them” chaired by Dr. Schwarze, was focused on the recessive OI forms type V and VI caused by mutation in IFTIM5 and PEDF genes, coding for the protein BRIL and Pigment Epithelium Derived Factor, respectively. Interestingly, a specific mutation in BRIL (S40L) generates in human a clinical outcome resembling mutation in PEDF, but the biochemical bases are still uncertain. A cross talk between PEDF and TGFβ in modulating PPARγ expression during osteogenic differentiation was proposed by Dr Kang. The role of PEDF in osteoblasts differentiation and the potential use of a PEDF mimetic peptide was presented by Dr. Niyibizi. The very peculiar phenotype associated to overexpression in mice of the protein BRIL carrying the human S40L mutation, responsible for the unusual OI type VI phenotype presented by Dr Moffatt and the new knock-in model carrying the S42L mutation generated by Dr. Guterman-Ram will open new possibility to understand the role of BRIL in osteoblasts function.

“Bone cells and transplant”

In session 3 “Bone cells and transplant” chaired by Dr Nagamani, an update on the potentiality of local transplantation of skeletal progenitor in murine model was provided by Dr Sinder and Dr Morello presented new RNAseq data that will help to dissect the role of osteocytes in the OI disease development.

“Response of Murine Models to therapeutic antibodies”

Session 4 was focused on the “Response of Murine Models to therapeutic antibodies” and chaired by Dr Glorieux. Dr Kozloff presented data on the effect of anti-sclerostin on cranial bone in a murine model of OI, further confirming the goodness of the therapy. A novel system based on the use of patient’ bone chips subcutaneously implanted in nude mice, followed by local antibody injection, has been presented as tool to evaluate the patient specific effect of the drug. Dr Rauch reported interesting data on the limited effect of anti-TGFβ antibody treatment in the severe OI model Col1a1Jrt/+ mice (Tauer JT, et al., J Bone Miner Res. 2019;34(2):207-214).

“Surgical Fractures and healing”

In Session 5 “Surgical Fractures and healing” chaired by Dr. Kruse, Dr. Smith, Dr. Zieba, Dr. Franzone, Dr. Robinson addressed the questions of OI fracture healing using OI murine model and OI patients observation. A better understanding of fracture repair in OI is necessary to improve the treatment of OI fracture, also considering rodding and bisphosphonate treatments.

“Clinical Natural History”

Session 6 focused on the “Clinical Natural History” of OI was chaired by Dr Rush. Dr. Raggio, who suggested cardio-pulmonary screening for all patients, discussed the cardiac and pulmonary complications in adults affected by OI. Dr. Marini presented a standardized chart for growth/BMI in classical OI (Barber LA, et al. Genet Med. 2018). The session closed with an innovative study on the OI cornea presented by Dr. Moroi.

“Updates on Treatment Protocols”

Session 7, chaired by Dr. Rauch was focused on the “Updates on Treatment Protocols”. A preliminary update of the status of the two clinical trials: Mereo trial (Setrusumab, anti-sclerostin antibody) and Fresoluminab trial (Anti-TGFb antibody) was provided by Dr. Nicoal and Dr. Nagamani, respectively.

Current treatment for OI

Dr. Shapiro closed the meeting with a discussion on the current treatment for OI.

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OIFE AGM groupOIFE

25 years of OIFE – how it all began

OI exists all over the world and the success story of the international OI community and the OIFE started on three continents at the same time more or less. But without the wonderful and easy exchange of knowledge and support that we can have today.

As we all heard many times this year, everything began in the UK, where in 1961 an OI baby was born to Margaret and David Grant. Maggie Grant has type I OI herself and – as she did not find any information during the following years – she placed an article in the Sunday Post newspaper and this was the start of the Brittle Bone Society and what is thought to be the world’s first support organization for people with OI.

Prior to this, in the USA Michael Geisman had been born in April 1956 and his mother Gemma shared Margaret Grant’s despair and her determination and founded the OIF in 1970.

And in Australia a young geneticist called David, started his first study about „Osteogenesis imperfecta“ and later became famous for his „David-Sillence-OI-classification“ (published in 1979). In 1977 the Australian OI society had been founded.

The first Scientific OI-Conferences took place in 1981, 1984 and 1987 in Chicago/USA on initiative of very few American doctors and in cooperation with Gemma Geisman, founder of the US OI Foundation (OIF).

The idea to set up some kind of European Osteogenesis Imperfecta umbrella organisation was born in September 1990 in Salice Terme, Italy. A few OI families from several European countries (like Serbia and the Netherlands) had brought their children and accidentally met with some Italian families, observing the 4th International Scientific Conference on OI nearby Pavia.

Marcella Zingales (IT) and Rob van Welzenis (NL) had met there for the first time and were both so happy to exchange similar experiences with the “OI-vacuum” in their respective countries that they had the immediate idea to start a European network very soon. From the very beginning this was supported and encouraged by Margaret Grant and Dr. Colin Paterson from the BBS office here in Dundee!

The inaugural table cloth

In winter 1991 Rob & Lidy had invited 3 representatives from AOI (France) to their home in the Netherlands and they all discussed the necessary basic questions like a name for the federation, and its structure. Rob had created the OIFE logo and prepared a first draft for its future statutes.

And already in October 1992 the Dutch OI society VOI (*1983) organized a follow up meeting with 21 representatives from 9 international OI organizations (including the OIF from the US) in Woudschoten, near Utrecht,NL.

It was decided to set up a European Federation and a provisional Executive Committee, lead by Rob van Welzenis, was installed. After a busy year AGM 1 took place only one year later, on 31st Sept 1993 in Northampton/UK (while the 5th SC was held nearby Oxford).

The inauguration of the “Osteogenesis Imperfecta Federation Europe” (OIFE) became a fact. Delegates and observers from 9 countries discussed the structure and the future tasks of this new umbrella and delegates of six OI associations (NL, F; I, D, DK; UK) accepted and signed the foundation charter. An Executive Committee under the presidency of Rob van Welzenis was installed. The OIFE was legally established as a non-profit-society on May 31th 1994 in the Netherlands.

Friends across borders

As many of you know and have experienced for years and again this past weekend with old and new friends from so many parts of Europe and the world, the OI-community has come a long way and we were and are successful and so important on many different levels.

Probably most of us feel that the OIFE has given them an extra huge and loving OI-family, where mutual support comes natural and overcomes limits and borders of all kinds – so much more is possible if you belong to this group full of solidarity and understanding.

Written by Ute Wallentin

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